Variant: rs1553630221 

    present in Gene: TGFBR2
    present in Chromosome: 3
    Position on Chromosome: 30672234
    Alleles of this Variant: G/C

rs1553630221 in TGFBR2 gene and Dysmorphic features PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 26724507 2016 A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease.

PMID 24793577 2014 The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

PMID 21593863 2011 Lessons on the pathogenesis of aneurysm from heritable conditions.

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

rs1553630221 in TGFBR2 gene and Muscle hypotonia PMID 24793577 2014 The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 21593863 2011 Lessons on the pathogenesis of aneurysm from heritable conditions.

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 26724507 2016 A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease.